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46, xy disorder of sex development
46, xy disorder of sex development
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
DISORDER OF SEX DEVELOPMENT, 46,XY
MESH:D058490
CYP11A1
Unknown
11502818
CTD
Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome
Pregnenolone biosynthesis
Endogenous sterols
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
+6 more
LHCGR
Unknown
19887492
7719343
CTD
Calcium signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Hormone signaling
Ovarian steroidogenesis
Prolactin signaling pathway
Hormone ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production
+6 more
NR5A1
Unknown
—
CTD
Cortisol synthesis and secretion
Cushing syndrome
Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Transcriptional regulation of pluripotent stem cells
+2 more
All
3
Causal
1
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
3
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Related Diseases
Diseases that share the most curated genes with 46, xy disorder of sex development.
5
View disease cluster →
NR5A1-related sex development disorder
1 shared gene
NR5A1
Related via 1 shared gene including NR5A1.
Testotoxicosis
1 shared gene
LHCGR
Related via 1 shared gene including LHCGR.
46,xx sex reversal
1 shared gene
NR5A1
Related via 1 shared gene including NR5A1.
46,xx ovotesticular disorder of sex development
1 shared gene
NR5A1
Related via 1 shared gene including NR5A1.
Disorders of sex development
1 shared gene
LHCGR
Related via 1 shared gene including LHCGR.
1
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